Imaging diagnosis of Crouzon syndrome in two cases confirmed on genetic studies - with a brief review

Abstract

Crouzon syndrome is the most common form of craniofacial dysostosis, characterised by a classical triad of abnormal skull shape, abnormal facies, and exophthalmos. The clinically overt dental abnormalities in these patients, distracts clinicians from the developmental neurological defects and therefore this entity remains relatively under - highlighted in radiology literature. We report and highlight the role of imaging in diagnosis of Crouzon syndrome in two patients, and discuss the relevant differential diagnosis. Moreover, our report is among the few Indian studies in which Crouzon syndrome was confirmed by genetic studies. The classical clinical triad of Crouzon syndrome was observed in both patients. The skull radiographs and cranial CT with 3D reconstruction VRT (Volume rendered technique), revealed characteristic radiological features. Genetic studies reconfirmed the clinical and radiological diagnosis of Crouzon syndrome, in both patients.

Computed tomography findings of Crouzon syndrome: A case report

“…The ectoderm covers a vital role in brain embryogenesis; therefore, its alteration in craniosynostosis syndromes can lead to brain anomalies such as schizencephaly or Dandy-Walker syndrome, as shown in this case [5] , [6] , [7] , [8] , [9] . Several mutations in transcription-derived growth factors have been associated with craniosynostosis syndromes, such as TWIST, FBN1, FGFR 1, 2, 3, tumor growth factor-b1, and b2 [10] . Particularly, Crouzon syndrome is caused by mutations in FGFR 2 or FGFR 3 [10] .…”

“…Several mutations in transcription-derived growth factors have been associated with craniosynostosis syndromes, such as TWIST, FBN1, FGFR 1, 2, 3, tumor growth factor-b1, and b2 [10] . Particularly, Crouzon syndrome is caused by mutations in FGFR 2 or FGFR 3 [10] .…”

“…Head CT is helpful in patients with Crouzon syndrome to assess the status of skull sutures, offering several benefits over X-ray and ultrasound. The main advantage of head CT is offering a more accurate representation of the patient's skull anatomy using three-dimensional reconstructions and the capacity to assess the brain morphology [ 1 , 9 , 10 , 12 , 15 ]. Magnetic resonance imaging is not frequently used to evaluate the skull in Crouzon syndrome; instead, it is the preferred method to assess the brain parenchyma when CT images show incidental findings [ 10 , 12 ].…”

Hypercementosis development in a patient with Crouzon syndrome

“…3,4 Imaging has been found to be beneficial in the early diagnosis of Crouzon syndrome. 5 Hypercementosis, the excessive formation of cementum above what is deemed normal, has been documented in a case of Crouzon syndrome in a 35-yearold female. 6 It has been reported that generalized cases of hypercementosis are rare.…”